Varaico: Literature-Extracted Genetic Variants

Gene:GJA3
Variant:p.E48G
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GJA3

NM_021954.4:p.E48G

Associated Papers

Genetic spectrum of congenital cataract with optional ocular and multisystem abnormalities.

Zhang H et al.

Bmc Medical Genomics, 2025

Novel Homozygous Missense Variant in GJA3 Connexin Domain Causing Congenital Nuclear and Cortical Cataracts.

Hassan AY et al.

International Journal of Molecular Sciences, 2021

Differential Domain Distribution of gnomAD- and Disease-Linked Connexin Missense Variants.

Bai D et al.

International Journal of Molecular Sciences, 2021

34360596 (PubMed )
Supplement: ijms-22-07832-s001.zip › ijms-1281081_supplemental-tables-June10-2021.pdf

In silico analysis of non-synonymous single nucleotide polymorphisms (nsSNPs) in the human GJA3 gene associated with congenital cataract.

Zhang M et al.

Bmc Molecular and Cell Biology, 2020

Identification of a GJA3 Mutation in a Large Family with Bilateral Congenital Cataract.

Li B et al.

Dna and Cell Biology, 2016

A novel mutation in the connexin 46 (GJA3) gene associated with congenital cataract in a Chinese pedigree.

Ding X et al.

Molecular Vision, 2011

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."